2013•The American Journal of Human GeneticsOpen access

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

Ranad Shaheen, Hanan E. Shamseldin, Catrina M. Loucks, Mohammed Zain Seidahmed, Shinu Ansari, Mohamed Ibrahim Khalil, Nadya Al‐Yacoub, Erica E. Davis, Natalie Mola, Katarzyna Szymańska, Warren Herridge, Albert E. Chudley, Bernard N. Chodirker, Jeremy Schwartzentruber, Jacek Majewski, Nicholas Katsanis, Coralie Poizat, Colin A. Johnson, Jillian S. Parboosingh, Kym M. Boycott, A. Micheil Innes, Fowzan S. Alkuraya

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Key concepts: Ciliopathy, Phenotype, Genetics, Biology, Mutation, Cilium, Computational biology, Gene